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Gene: CAPN6 |
Gene summary for CAPN6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CAPN6 | Gene ID | 827 |
| Gene name | calpain 6 | |
| Gene Alias | CANPX | |
| Cytomap | Xq23 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q9Y6Q1 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 827 | CAPN6 | HCC2_Meng | Human | Liver | HCC | 2.40e-16 | 9.92e-02 | 0.0107 |
| 827 | CAPN6 | S027 | Human | Liver | HCC | 7.21e-09 | 1.28e+00 | 0.2446 |
| 827 | CAPN6 | S028 | Human | Liver | HCC | 5.31e-30 | 1.88e+00 | 0.2503 |
| 827 | CAPN6 | S029 | Human | Liver | HCC | 1.48e-19 | 1.43e+00 | 0.2581 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| CAPN6 | SNV | Missense_Mutation | c.1795N>C | p.Asp599His | p.D599H | Q9Y6Q1 | protein_coding | tolerated(0.2) | possibly_damaging(0.629) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| CAPN6 | SNV | Missense_Mutation | rs141738051 | c.388G>A | p.Glu130Lys | p.E130K | Q9Y6Q1 | protein_coding | tolerated(0.07) | possibly_damaging(0.474) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CAPN6 | SNV | Missense_Mutation | novel | c.310N>A | p.His104Asn | p.H104N | Q9Y6Q1 | protein_coding | tolerated(0.14) | benign(0.279) | TCGA-AN-A0FD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CAPN6 | SNV | Missense_Mutation | novel | c.1492N>T | p.Thr498Ser | p.T498S | Q9Y6Q1 | protein_coding | tolerated(0.66) | benign(0.184) | TCGA-B6-A0WY-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| CAPN6 | SNV | Missense_Mutation | rs868795243 | c.364N>T | p.His122Tyr | p.H122Y | Q9Y6Q1 | protein_coding | deleterious(0) | possibly_damaging(0.861) | TCGA-BH-A0BW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | CR |
| CAPN6 | SNV | Missense_Mutation | novel | c.176N>T | p.Asp59Val | p.D59V | Q9Y6Q1 | protein_coding | deleterious(0.02) | possibly_damaging(0.625) | TCGA-BH-A8FZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| CAPN6 | SNV | Missense_Mutation | c.721N>A | p.Glu241Lys | p.E241K | Q9Y6Q1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CAPN6 | SNV | Missense_Mutation | novel | c.173N>C | p.Cys58Ser | p.C58S | Q9Y6Q1 | protein_coding | tolerated(0.09) | benign(0.075) | TCGA-S3-AA0Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Ancillary | neulasta | CR |
| CAPN6 | deletion | Frame_Shift_Del | novel | c.30_31delNN | p.Asn10LysfsTer19 | p.N10Kfs*19 | Q9Y6Q1 | protein_coding | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| CAPN6 | insertion | Nonsense_Mutation | novel | c.432_433insTAGTTAGATTGATTTTTTATCGGAGA | p.Gly145Ter | p.G145* | Q9Y6Q1 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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